Ellie's story - Jeans for Genes

Ellie's story

Ellie is six years old and has 4H syndrome. It’s an incredibly rare hereditary condition that causes ataxia, a neurological problem that makes you lose control of your body. It also leads to teeth problems and a lack of nerve insulation in the brain.

When Ellie was born, her mum Kelly had no idea a ‘clicky hip’ would be the start of a voyage of discovery, not least about genetics. ‘She was born breech with one of her legs in a funny position, so I didn’t think anything more of it. She was put in a frog plaster for around five months, which restricted her movement. But once it was off she started to sit up like any other baby.’

However, as time went on, Kelly noticed her daughter was having problems standing and taking her first steps. Ellie’s orthopaedic consultant didn’t find anything structurally wrong but a concerned health visitor suggested she went for an MRI scan. The scan in 2008 showed that Ellie’s cerebellum in her brain was damaged, causing ataxia.

Genetic testing revealed that Ellie had 4H syndrome, a hereditary form of the condition resulting in not just ataxia but also teeth problems and a lack of myelin (nerve insulation) in her brain. Doctors also discovered that Ellie’s condition, which affects only 13 people worldwide, was down to complete chance. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the problematic gene, one from each parent. ‘It turns out we both carry the gene responsible for the ataxia and didn’t know it,’ says Kelly. ‘It was just one of those things that we met each other and had a baby together. It shows how much genetics is about chance – it could have happened to anyone, but it happened to us.’

Although the diagnosis came as a massive shock for Kelly, especially when she was told that ataxia children rarely make it beyond their twenties, she now feels more positive. ‘When I did my own bit of research, I realised Ellie may live to a very good age and the best thing is to just take each day as it comes,’ she says. ‘She is such a joy, a fantastic girl with a great personality who doesn’t let her condition get in the way of enjoying life. When she falls over because of ataxia, she just says, “Oh my silly legs”, then gets right back up again. She’s amazing.’